Our research progress in action

Our aim is to prevent and slow down kidney disease and stop it in its tracks. By doing this kidney patients’ lives will be transformed. Every new research finding our scientists make takes us one step closer to reaching our goals. Every discovery improves our understanding of kidney disease and how to beat it. Here is a snapshot of some of the research that was published during the year.

A new target for nephrotic syndrome treatment

Research led by scientists at the University of Bristol has provided new insights into how a faulty gene leads to a devastating form of a kidney condition called nephrotic syndrome in some people.

Around 1 in 50,000 children are diagnosed with nephrotic syndrome each year and many go on to rely on dialysis or a kidney transplant to survive.

Dr Louise Farmer and her colleagues have discovered that a protein called TRPC6, which controls how calcium enters cells, also acts as an ‘anchoring’ protein in the kidney, controlling how kidney cells called podocytes move around and maintain the structure of the kidney’s filter.

The team found that in some patients with nephrotic syndrome, the anchoring ability of this protein is altered, directly affecting the kidney’s filter because it makes podocytes sticky and unable to move. When podocytes cannot move, holes develop in the filter and it cannot stop important proteins from passing through into the urine.

These findings could lead to new ways to prevent or treat the condition, by revealing new targets to intervene earlier in the course of the disease.

Boosting molecule could prevent kidney blood vessel damage in diabetes

In September, Professor Luigi Gnudi and his team at King’s College Hospital, discovered that boosting a molecule called soluble Nogo-B (or sNogo-B) improved kidney disease in diabetic mice, reducing protein loss in the urine and protecting the structure of the kidneys’ filters.

Around a third of people with diabetes will develop kidney disease during their lifetime, usually because their blood vessels become damaged. When this happens in the kidney, its filters become impaired, and protein leaks into the urine. This is a dangerous complication of diabetes and leads to many people requiring dialysis or a transplant.

The research team are now studying this molecule in more detail, to work out exactly how sNogo-B works and protects blood vessels in both mice and people with diabetes. They also want to talk to and work with potential industry partners to explore how drugs might be able to target this protective protein.

This finding suggests that designing a drug to boost this molecule could help many people with diabetes to avoid the devastating complication of kidney disease.

Developing more precise and accurate diagnostic tests

“My team and I have developed an improved blood test to measure the risk of both kidney and heart disease. This blood test gives a more definite diagnosis, which could lead to better health outcomes, and could easily be adopted by the NHS for routine testing.

To check kidney health, doctors usually measure levels of a waste product in the blood called serum creatinine. This molecule naturally builds up as our muscles work. The levels change depending on how well the kidneys are working, and rise if the kidneys aren’t working well.

We’ve put a different chemical in the spotlight: cystatin C. Unlike serum creatinine, cystatin C is produced by all cells in the body, rather than just muscles, and so isn’t affected by things like muscle mass or gender.

In our study, we used records from over 400,000 patients in the UK Biobank to look at three different kidney health tests and find out which one most accurately predicted heart disease and the risk of dying earlier.

We found cystatin C predicted risk of heart and circulatory disease, endstage kidney disease and dying early compared with the more commonly used serum creatinine test.

Testing for cystatin C costs ten times more than serum creatinine – it costs £2.50 per test, compared with 25 pence for a serum creatinine test. Because of this, cystatin C is currently only used in specialised settings (for example, in children) and is not available in all hospitals.

But despite it being more expensive, our study shows that adopting this simple test would mean doctors have a much more precise and accurate test to diagnose kidney disease and predict cardiovascular risk.”

We had no idea if he would survive. We thought kidney disease was something suffered by older people, it was terrifying.

Baby Roman still fighting after a scary start

“Our son Roman spent most of the first five months of his life in hospital. We have finally come to terms with the shock of his diagnosis and the fact that he’ll need a transplant when he’s older, but we didn’t cope well at first – we were heartbroken.

It was one of the scariest moments of our lives when we were told he had kidney disease.

It is only with hindsight I look at my pregnancy scans and see the hydronephrosis – swollen bladder and kidneys. I’d enjoyed a healthy pregnancy so we had no idea anything was wrong. Had we been prepared it would have certainly helped.

Within days of being born, Roman’s kidneys swelled so much that his left kidney collapsed.

He had surgery as they thought it was a valve blocking the urine, but they didn’t find the valves they expected, he had to have further tests on his nerves, spine and bladder to see how much fluid needed draining.

It was really scary. It was our first baby and we had no idea what any of this meant for his long-term future.

Blood tests were carried out at lunchtime and by 10pm that day we had the diagnosis. He had bilateral hydronephrosis, VUR reflux (causing his urine to be pushed back up to his kidneys) and chronic kidney disease.

He’s on a lot of medication now, but he’s so brave – even the blood tests don’t bother him now because he’s used to it.

He is bright and bubbly, so we feel a lot more relaxed about it.

Support groups have helped us get to grips with it. We know how lucky we are to have Roman. He smiles and laughs all the time. We are grateful that he is still here fighting.

Roman’s dad Lee and I will have the tests to see which one of us is the best match to donate a kidney and we’ll also have genetic testing to see if kidney disease is an issue for any future children we may have.”

Gene editing may halt kidney disease in a life-limiting condition.

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

Research by experts at Newcastle University in cells and mice suggests that gene editing could stop kidney damage in patients with Joubert syndrome with a specific faulty gene.

Joubert syndrome is a brain disorder, causing varying degrees of physical, mental and sometimes visual impairments. The condition affects approximately one in 80,000 newborn babies, and one third suffer kidney failure. Not all patients with Joubert syndrome carry the faulty CEP290 gene, but those who do will develop kidney disease during their lifetime and may require a transplant or dialysis.

The Newcastle team have found it is possible to use a strand of engineered DNA to trick the cells’ own editing machinery to bypass the CEP290 mutation that causes kidney damage – a technique known as ‘exon-skipping’. Professor John Sayer, from the university’s Institute of Genetic Medicine, led the research that has been published in the Proceedings of the National Academy of Sciences (PNAS).

He said: “This is the first time that gene editing within the kidney has been performed, even in a mouse model, as the design and delivery of the gene editing to the kidney has previously been thought to be too difficult.

“Our research is a major step forward as we now know how we may be able to offer a therapy that corrects the gene mistake within kidney cells and prevent genetic kidney disease developing. We hope to begin testing this treatment in patients with exon-skipping within the next three years.” The Newcastle team are now exploring the use of exon-skipping therapies in kidney patients by working closely with manufacturers to develop a new treatment.